Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations

• Published in: Pediatric neurology Vol. 21; no. 5; pp. 826 - 829
• Main Authors: Al-Essa, Mohammed A, Chaves-Carballo, Enrique, Ozand, Pinar T
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.11.1999; Elsevier
• Subjects: Aminoacid disorders; Biological and medical sciences; Brain - diagnostic imaging; Child, Preschool; Errors of metabolism; Humans; Infant, Newborn; Male; Medical sciences; Metabolic diseases; Peroxisomal Disorders - diagnostic imaging; Peroxisomal Disorders - genetics; Pipecolic Acids - blood; Pipecolic Acids - urine; Tomography, X-Ray Computed; Human; Biochemical analysis; Radiodiagnosis; Metabolic diseases; Exploration; Enzymopathy; Nuclear magnetic resonance imaging; Genetic disease; Case study; Symptomatology; Pipecolic acid derivatives; Peroxisomal disorders; Medical imagery; Computerized axial tomography; Child; Aminoacid disorder
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/S0887-8994(99)00085-5

Pipecolic acid is a biochemical marker frequently detected in group 1 peroxisomal disorders (peroxisomal biogenesis disorders). Its presence, in addition to the constellation of particular phenotypic manifestations and pathologic findings, has led to its recent classification under disorders of peroxisomal biogenesis as a separate disease entity (hyperpipecolic acidemia or hyperpipecolatemia). The clinical, biochemical, and radiologic findings observed in three patients diagnosed with hyperpipecolic acidemia are reported.